Results 171 to 180 of about 20,549 (261)

Cesarean delivery in a pregnant woman with Ellis-van Creveld syndrome: a case report. [PDF]

BMC Pregnancy Childbirth
Yu Y, Zhuang W.
europepmc   +1 more source

A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene. [PDF]

BMC Pediatr
Yuan X, Chu S, Gu W.
europepmc   +1 more source

Case Report: A case of Culler-Jones syndrome caused by <i>GLI2</i> gene mutation. [PDF]

Front Pediatr
Xie X, Wei Y, Li Y, Wang J, Zhang Y, Wu J, Wang F.   +6 more
europepmc   +1 more source

The molecular characterization of seven novel GLI family zinc finger 3 (<i>GLI3</i>) variants in Chinese families with limb malformations. [PDF]

Front Genet
Tao S, Gu X, Wang X, Shen X, Zhao X.
europepmc   +1 more source

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders. [PDF]

Hum Genomics
Alafghani R, Aljeaid D, Shaik NA, Banaganapalli B, Elango R, Khard G, Habab W, Jadkarim G, Alshaer DS, Almutadares M, Alrayes NM, Issa NM.   +11 more
europepmc   +1 more source

Expanding the phenotype associated with biallelic SCNM1 variants. [PDF]

Hum Genomics
Iturrate A, Tran-Mau Them F, Verloes A, Pouzet A, de Silva D, Perrin-Sabourin L, Wentzensen IM, Jones K, Upadia J, Abdalla E, Thauvin-Robinet C, Ruiz-Perez VL, Bruel AL.   +12 more
europepmc   +1 more source

Temporal loss of <i>En1</i> during limb development causes distinct phenotypes. [PDF]

Genes Dev
Ringel AR, Benetti N, Magg A, Groll F, Schöpflin R, Kühnlein M, Stiege AC, Fischer U, Wittler L, Game L, Lorenz S, Young G, Mundlos S, Allou L.   +13 more
europepmc   +1 more source

Thumb polydactyly

Journal of Orthopaedic Reports
Soumen Das De, Hong Jing Lee
doaj   +1 more source

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report. [PDF]

Mol Genet Genomic Med
Bonilla-Navarrete S, Prieto LE, Carvajal LV, Olave-Rodríguez JA, Rodriguez-Rojas LX, Nastasi-Catanese JA.   +5 more
europepmc   +1 more source

Cost Effectiveness of Hand Postaxial Polydactyly Type B Excision in the Office Versus Operating Room. [PDF]

J Hand Surg Glob Online
Banala M, Struble SL, Cordray H, Chang B, Shah AS, Buttrick E, Vaile JR, Mendenhall SD.   +7 more
europepmc   +1 more source